megaconial type congenital muscular dystrophy
MONDO:0011246Mondo
Findings
No curated finding names megaconial type congenital muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 15 of 15 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 15 of 15 reported patients
- Generalized hypotoniaHPOHP:0001290
- 15 of 15 reported patients · Infantile onset
- Increased endomysial connective tissueHPOHP:0100297
- 15 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 15 of 15 reported patients
- Mitochondrial hypertrophyHPOHP:0033686
- 15 of 15 reported patients
- Muscle weaknessHPOHP:0001324
- 15 of 15 reported patients · Infantile onset
- Muscular dystrophyHPOHP:0003560
- 15 of 15 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 6 of 13 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 13 reported patients
- SeizureHPOHP:0001250
- 3 of 15 reported patients
- Motor delayHPOHP:0001270
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHKBHGNC:1938
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: megaconial type congenital muscular dystrophy
- Also called
- congenital megaconial myopathycongenital muscular dystrophy due to phosphatidylcholine biosynthesis defectcongenital muscular dystrophy with mitochondrial structural abnormalitiesmegaconial congenital muscular dystrophy